Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.C193S
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F5

NM_000130.5:p.C193S

Associated Papers

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency.

Tabibian S et al.

Seminars in Thrombosis and Hemostasis, 2019

Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency.

Nuzzo F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."